ArticleCerebellum (London, England)2018
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
Article in Cerebellum (London, England), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 34 citations in OpenAlex.
- The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.Movement disorders : official journal of the Movement Disorder Society · 2026Observational
- Article
- Article
- Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.Neurosciences (Riyadh, Saudi Arabia) · 2023Article
- Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy.Children (Basel, Switzerland) · 2023Article
- Chinese patients with p.Arg756 mutations ofPediatric investigation · 2022Article
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- Genetically altered animal models for ATP1A3-related disorders.Disease models & mechanisms · 2021Article
- Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.Molecular genetics & genomic medicine · 2021Review
- ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.Developmental medicine and child neurology · 2021Article
- ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.Frontiers in neurology · 2021Review
- Alternating Hemiplegia of Childhood in Korea: a Case Report.Journal of Korean medical science · 2020Article
- Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.International journal of molecular sciences · 2020Review
- Clinical and Genetic Spectrum ofJournal of clinical neurology (Seoul, Korea) · 2020Article
- Fever-related ataxia: a case report of CAPOS syndrome.Cerebellum & ataxias · 2019Article
- Non-invasive Focal Mechanical Vibrations Delivered by Wearable Devices: An Open-Label Pilot Study in Childhood Ataxia.Frontiers in neurology · 2018Article
- Expanding Phenotype ofChild neurology openArticle
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), together with many other intermediate phenotypes. Ataxia is always more increasingly reported, either as accessory or prominent sign, in ATP1A3-related conditions, being thus considered as a peculiar feature of this spectrum. Here, we report three cases of childhood rapid-onset ataxia due to two different ATP1A3 variants. Interestingly, two patients (mother and son) showed a variant c.2266C>T (p.R756C), while the third carried the c.2452G>A (p.E818K) variant, commonly described in association with CAPOS syndrome. Our report contributes to extent the phenotypic spectrum of ATP1A3 mutations, remarking childhood rapid-onset ataxia as an additional clinical presentation of ATP1A3-related conditions. Finally, we discussed this phenomenology in the light of translational evidence from a RDP animal model.
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